先天性筋無力症候群

小児・神経疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_005055.5(RAPSN):c.370C>T (p.Gln124Ter)	RAPSN	Pathogenic/Likely pathogenic	11	47469525	47469525	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA380334223
single nucleotide variant	NM_020549.5(CHAT):c.1669G>A (p.Ala557Thr)	CHAT	Pathogenic/Likely pathogenic	10	50863175	50863175	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA5497591
Duplication	NM_173660.5(DOK7):c.957dup (p.Lys320fs)	DOK7	Pathogenic/Likely pathogenic	4	3494664	3494665	A	AC	criteria provided, multiple submitters, no conflicts	ClinGen:CA549706289
single nucleotide variant	NM_001171613.2(PREPL):c.40C>T (p.Gln14Ter)	PREPL	Pathogenic/Likely pathogenic	2	44573442	44573442	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA1641666
single nucleotide variant	NM_000747.3(CHRNB1):c.727C>T (p.Arg243Cys)	CHRNB1	Pathogenic/Likely pathogenic	17	7352014	7352014	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA8347872
Deletion	NM_000080.4(CHRNE):c.934_936del (p.Met312del)	CHRNE	Pathogenic/Likely pathogenic	17	4802859	4802861	CCAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658526
single nucleotide variant	NM_000079.4(CHRNA1):c.1321G>A (p.Gly441Arg)	CHRNA1	Pathogenic/Likely pathogenic	2	175612905	175612905	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA1974303
Duplication	NM_000080.4(CHRNE):c.183_187dup (p.Leu63fs)	CHRNE	Pathogenic/Likely pathogenic	17	4805917	4805918	A	AGTGAG	criteria provided, multiple submitters, no conflicts	ClinGen:CA8314588
single nucleotide variant	NM_173660.5(DOK7):c.513C>T (p.Gly171=)	DOK7	Pathogenic/Likely pathogenic	4	3478250	3478250	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA2829017
single nucleotide variant	NM_000334.4(SCN4A):c.4776G>A (p.Met1592Ile)	SCN4A	Pathogenic/Likely pathogenic	17	62018866	62018866	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA400615002